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TLR1 Gene(Protein Coding)

Toll Like Receptor 1

GCID:
GC04M038797
GIFtS:
69
Genes Participants
UDN Logo

Aliases for TLR1 Gene

Aliases for TLR1 Gene

  • Toll Like Receptor 1 2 3
  • Toll/Interleukin-1 Receptor-Like Protein 3 4
  • Toll-Like Receptor 1 2 5
  • TIL 3 4
  • CD281 Antigen 4
  • TIL. LPRS5 3
  • KIAA0012 4
  • Rsc786 3
  • CD281 3

External Ids for TLR1 Gene

Previous GeneCards Identifiers for TLR1 Gene

  • GC04P039090
  • GC04M038961
  • GC04M038632
  • GC04M038695
  • GC04M038620
  • GC04M038474
  • GC04M038122

Summaries for TLR1 Gene

Entrez Gene Summary for TLR1 Gene

  • The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for TLR1 Gene

TLR1 (Toll Like Receptor 1) is a Protein Coding gene. Diseases associated with TLR1 include Leprosy 5 and Leprosy. Among its related pathways are TNF Signaling (sino) and p53 Pathway (RnD). GO annotations related to this gene include protein heterodimerization activity and transmembrane signaling receptor activity. An important paralog of this gene is TLR6.

UniProtKB/Swiss-Prot for TLR1 Gene

  • Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or lipopeptides. Forms the activation cluster TLR2:TLR1:CD14 in response to triacylated lipopeptides, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.

Tocris Summary for TLR1 Gene

  • Toll-like receptors (TLRs) are single transmembrane cell-surface receptors, which have a key role in the innate immune system. TLRs generally exist as homodimers (heterodimers have been reported) and are found on immune cells; macrophages, B lymphocytes and mast cells.

Gene Wiki entry for TLR1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TLR1 Gene

Genomics for TLR1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for TLR1 Gene

Enhancers for TLR1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TLR1 on UCSC Golden Path with GeneCards custom track

Promoters for TLR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TLR1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TLR1 gene promoter:

Genomic Location for TLR1 Gene

Chromosome:
4
Start:
38,787,555 bp from pter
End:
38,856,817 bp from pter
Size:
69,263 bases
Orientation:
Minus strand

Genomic View for TLR1 Gene

Genes around TLR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLR1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TLR1 Gene

Proteins for TLR1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for TLR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15399-TLR1_HUMAN
    Recommended name:
    Toll-like receptor 1
    Protein Accession:
    Q15399
    Secondary Accessions:
    • D1CS39
    • D1CS41
    • O15452
    • Q32MK3
    • Q32MK4
    • Q9UG90

    Protein attributes for TLR1 Gene

    Size:
    786 amino acids
    Molecular mass:
    90291 Da
    Quaternary structure:
    • Interacts (via extracellular domain) with TLR2. TLR2 seems to exist in heterodimers with either TLR1 or TLR6 before stimulation by the ligand. The heterodimers form bigger oligomers in response to their corresponding ligands as well as further heterotypic associations with other receptors such as CD14 and/or CD36 (PubMed:16880211, PubMed:17889651). Binds MYD88 (via TIR domain). Interacts with CNPY3 (By similarity).
    SequenceCaution:
    • Sequence=BAA02801.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TLR1 Gene

neXtProt entry for TLR1 Gene

Proteomics data for TLR1 Gene at MOPED

Protein Expression for TLR1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TLR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TLR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TLR1 (TLR1)

No data available for DME Specific Peptides for TLR1 Gene

Domains & Families for TLR1 Gene

Gene Families for TLR1 Gene

HGNC:
IUPHAR :

Protein Domains for TLR1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TLR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15399

UniProtKB/Swiss-Prot:

TLR1_HUMAN :
  • Contains 1 LRRCT domain.
  • Belongs to the Toll-like receptor family.
  • Contains 19 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 LRRCT domain.
  • Contains 1 TIR domain.
Family:
  • Belongs to the Toll-like receptor family.
Similarity:
  • Contains 19 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with TLR1: view

Function for TLR1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for TLR1 Gene

GENATLAS Biochemistry:
Drosophila transmembrane receptor Toll homolog 1,ubiquitously expressed,with at least two alternatively spliced isoforms,tissue specific,maybe involved in morphogenesis and immune defense
UniProtKB/Swiss-Prot Function:
Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or lipopeptides. Forms the activation cluster TLR2:TLR1:CD14 in response to triacylated lipopeptides, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.

Phenotypes for TLR1 Gene

MGI mutant phenotypes for TLR1:
inferred from 2 alleles
GenomeRNAi human phenotypes for TLR1:
genes like me logo Genes that share phenotypes with TLR1: view

Animal Models for TLR1 Gene

MGI Knock Outs for TLR1:

Animal Model Products

miRNA for TLR1 Gene

miRTarBase miRNAs that target TLR1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TLR1 Gene

Localization for TLR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLR1 Gene

Cell membrane; Single-pass type I membrane protein. Cytoplasmic vesicle, phagosome membrane; Single-pass type I membrane protein. Membrane raft. Golgi apparatus. Note=Does not reside in lipid rafts before stimulation but accumulates increasingly in the raft upon the presence of the microbial ligand. In response to triacylated lipoproteins, TLR2:TLR1 heterodimers are recruited in lipid rafts, this recruitment determine the intracellular targeting to the Golgi apparatus. {ECO:0000269 PubMed:16880211}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TLR1 Gene COMPARTMENTS Subcellular localization image for TLR1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
extracellular 3
cytosol 2
endoplasmic reticulum 2
endosome 2
lysosome 2
nucleus 2
vacuole 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for TLR1 Gene

Pathways & Interactions for TLR1 Gene

genes like me logo Genes that share pathways with TLR1: view

Gene Ontology (GO) - Biological Process for TLR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002224 toll-like receptor signaling pathway IBA --
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
GO:0006952 defense response IEA --
GO:0006954 inflammatory response IEA --
GO:0007165 signal transduction IEA,TAS 9435236
genes like me logo Genes that share ontologies with TLR1: view

No data available for SIGNOR curated interactions for TLR1 Gene

Drugs & Compounds for TLR1 Gene

Products:

  1. Drug

(4) Drugs for TLR1 Gene - From: Tocris and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Imiquimod Approved, Investigational Pharma Agonist TLR-7 agonist,immunomodulator with antiviral and antitumor activity, Toll-like receptor 7 (TLR7) agonist 132
Resiquimod Pharma Toll-like receptor 7 (TLR7) agonist 0

(5) Additional Compounds for TLR1 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Pam3CSK4
112208-00-1
Poly(I:C)
24939-03-5
RWJ 21757
121288-39-9

(5) Tocris Compounds for TLR1 Gene

Compound Action Cas Number
Imiquimod Toll-like receptor 7 (TLR7) agonist 99011-02-6
Pam3CSK4 TLR1/2 agonist; induces cytokine production 112208-00-1
Poly(I:C) TLR3 agonist 24939-03-5
Resiquimod Toll-like receptor 7 (TLR7) agonist 144875-48-9
RWJ 21757 Toll-like receptor 7 (TLR7) agonist 121288-39-9
genes like me logo Genes that share compounds with TLR1: view

Transcripts for TLR1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for TLR1 Gene

(7) REFSEQ mRNAs :
(20) Additional mRNA sequences :
(37) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TLR1 Gene

Toll-like receptor 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TLR1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e · 6f
SP1: -
SP2: - -
SP3: - -
SP4: - - - - - -
SP5: - - - -
SP6: - - -
SP7: -
SP8: - - - - -

Relevant External Links for TLR1 Gene

GeneLoc Exon Structure for
TLR1
ECgene alternative splicing isoforms for
TLR1

Expression for TLR1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for TLR1 Gene

mRNA expression in normal human tissues for TLR1 Gene
mRNA expression by BioGPS for TLR1 GenemRNA expression by GTEx for TLR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TLR1 Gene

This gene is overexpressed in Whole Blood (x26.6).

Protein differential expression in normal tissues from HIPED for TLR1 Gene

This gene is overexpressed in Monocytes (58.7) and CD8 Tcells (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TLR1 Gene



SOURCE GeneReport for Unigene cluster for TLR1 Gene Hs.654532

mRNA Expression by UniProt/SwissProt for TLR1 Gene

Q15399-TLR1_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in spleen, ovary, peripheral blood leukocytes, thymus and small intestine.
genes like me logo Genes that share expression patterns with TLR1: view

Protein tissue co-expression partners for TLR1 Gene

- Elite partner

Primer Products

Orthologs for TLR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TLR1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
 Mammalia TLR1 35
  • 85.54 (n)
  • 79.85 (a)
TLR1 36
  • 79 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Tlr1 35
  • 77.1 (n)
  • 74.07 (a)
Tlr1 16
Tlr1 36
  • 73 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia TLR1 35
  • 99.24 (n)
  • 98.35 (a)
TLR1 36
  • 98 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Tlr1 35
  • 78.42 (n)
  • 73.44 (a)
oppossum
(Monodelphis domestica)
 Mammalia -- 36
  • 60 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves TLR1LA 36
  • 48 (a)
 ManyToMany
TLR1LB 36
  • 48 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 48 (a)
 ManyToMany
-- 36
  • 49 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia tlr1 35
  • 54.94 (n)
  • 44.93 (a)
zebrafish
(Danio rerio)
 Actinopterygii tlr1 35
  • 48.05 (n)
  • 37.69 (a)
tlr1 36
  • 34 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Toll-9 36
  • 18 (a)
 OneToMany
Species with no ortholog for TLR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TLR1 Gene

ENSEMBL:
Gene Tree for TLR1 (if available)
TreeFam:
Gene Tree for TLR1 (if available)

Paralogs for TLR1 Gene

Paralogs for TLR1 Gene

(3) SIMAP similar genes for TLR1 Gene using alignment to 14 proteins:

Pseudogenes.org Pseudogenes for TLR1 Gene

genes like me logo Genes that share paralogs with TLR1: view

Variants for TLR1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TLR1 Gene

TLR1_HUMAN-Q15399
Genetic variations in TLR1 may influence susceptibility to or protection against contracting leprosy and define the leprosy susceptibility locus 5 [MIM:613223]. Ser-602 is a common allele in Caucasians. It is associated with impaired cell surface expression and receptor function resulting in protection against leprosy.

Sequence variations from dbSNP and Humsavar for TLR1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs5743612 - 38,798,480(-) TCAAG(C/G/T)ACTTG nc-transcript-variant, reference, missense
rs5743611 - 38,798,593(-) TAATA(C/G)AATCC nc-transcript-variant, reference, missense
rs4833095 - 38,798,089(+) TAAGA(C/T)TTGAT nc-transcript-variant, reference, missense
rs3923647 - 38,797,918(-) TATAC(A/C/T)CCAAG nc-transcript-variant, reference, missense
rs5743613 - 38,797,888(-) TTTTC(C/T)GCAAA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TLR1 Gene

Variant ID Type Subtype PubMed ID
dgv5526n71 CNV Loss 21882294

Variation tolerance for TLR1 Gene

Residual Variation Intolerance Score: 96.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.47; 71.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TLR1 Gene

Human Gene Mutation Database (HGMD)
TLR1

Disorders for TLR1 Gene

MalaCards: The human disease database

(21) MalaCards diseases for TLR1 Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leprosy 5
  • leprosy, protection against
leprosy
  • leprosy, susceptibility to
neurosyphilis
lyme disease
  • bannwarth syndrome
melioidosis
  • acute and fulminating melioidosis
- elite association - COSMIC cancer census association via MalaCards
Search TLR1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TLR1

Genetic Association Database (GAD)
TLR1
Human Genome Epidemiology (HuGE) Navigator
TLR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TLR1
genes like me logo Genes that share disorders with TLR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TLR1 Gene

Publications for TLR1 Gene

  1. Polymorphism N248S in the human Toll-like receptor 1 gene is related to leprosy and leprosy reactions. (PMID: 19456232) Schuring R.P. … Oskam L. (J. Infect. Dis. 2009) 3 4 48 67
  2. Variants in toll-like receptors 2 and 9 influence susceptibility to pulmonary tuberculosis in Caucasians, African-Americans, and West Africans. (PMID: 19771452) Velez D.R. … Scott W.K. (Hum. Genet. 2010) 3 23
  3. Human TLRs 10 and 1 share common mechanisms of innate immune sensing but not signaling. (PMID: 20348427) Guan Y. … Tapping R.I. (J. Immunol. 2010) 3 23
  4. Gene polymorphisms of Toll-like and related recognition receptors in relation to the vaginal carriage of Gardnerella vaginalis and Atopobium vaginae. (PMID: 19200604) Verstraelen H. … Temmerman M. (J. Reprod. Immunol. 2009) 3 23
  5. Genetic variation of the human urinary tract innate immune response and asymptomatic bacteriuria in women. (PMID: 20016852) Hawn T.R. … Hooton T.M. (PLoS ONE 2009) 3 23

Products for TLR1 Gene

  • Addgene plasmids for TLR1

Sources for TLR1 Gene

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